ClinVar Miner

Variants in gene CDH1

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
593 261 2805 2012 832 87 5160

Condition and significance breakdown #

Total conditions: 61
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary diffuse gastric adenocarcinoma 471 148 2047 1374 748 13 4049
Hereditary cancer-predisposing syndrome 231 62 1653 1293 82 0 3042
not provided 77 46 538 239 137 8 935
not specified 1 0 212 345 97 20 603
CDH1-related diffuse gastric and lobular breast cancer syndrome 135 25 76 90 59 2 379
Familial cancer of breast 31 20 235 1 3 23 308
CDH1-related disorder 5 2 37 59 3 0 106
Familial cancer of breast; Ovarian cancer 6 0 33 41 1 0 81
Breast and/or ovarian cancer 0 0 23 43 9 0 75
Malignant tumor of breast 7 2 26 28 7 0 70
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian cancer 2 3 31 5 0 0 41
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Prostate cancer 6 2 16 10 1 1 36
Prostate cancer 0 0 2 10 23 0 35
Hereditary breast ovarian cancer syndrome 1 3 18 4 0 0 26
Blepharocheilodontic syndrome 1 4 2 12 0 3 0 20
Gastric cancer 10 0 1 0 0 9 20
Neoplasm 1 10 0 0 0 0 11
Ovarian cancer 0 3 3 2 3 0 11
Cleft lip with or without cleft palate 0 6 0 0 0 0 6
Hereditary cancer 0 0 2 4 0 0 6
Endometrial carcinoma 2 0 3 0 0 0 5
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma 2 0 0 0 0 3 5
Ovarian serous cystadenocarcinoma 0 0 0 0 0 4 4
Carcinoma of colon 0 0 3 0 0 0 3
Neoplasm of stomach 0 2 1 0 0 0 3
Breast carcinoma 0 1 1 0 0 0 2
Cleft lip/palate 0 0 2 0 0 0 2
Diffuse gastric and lobular breast cancer syndrome with cleft lip and with or without cleft palate 2 0 0 0 0 0 2
Gastric adenocarcinoma 0 1 1 0 0 0 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Lung cancer 0 0 0 0 0 2 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Melanoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Breast cancer, susceptibility to 0 0 1 0 0 0 1
Breast lobular carcinoma 1 0 0 0 0 0 1
Breast neoplasm 0 0 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 0 0 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 1 0 0 0 0 1
Carcinoma of parotid gland 0 1 0 0 0 0 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Colon cancer 0 0 1 0 0 0 1
Colorectal cancer 1 0 0 0 0 0 1
Diffuse midline glioma, H3 K27-altered 0 1 0 0 0 0 1
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Familial prostate cancer; Ovarian cancer 1 0 0 0 0 0 1
Familial cancer of breast; Blepharocheilodontic syndrome 1; Hereditary diffuse gastric adenocarcinoma; Prostate cancer 0 0 1 0 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 1
Hereditary diffuse gastric adenocarcinoma; CDH1-related diffuse gastric and lobular breast cancer syndrome 0 0 0 0 0 1 1
Hereditary diffuse gastric adenocarcinoma; Malignant tumor of breast 0 0 0 0 0 1 1
Hereditary diffuse gastric adenocarcinoma; Ovarian cancer 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Lynch syndrome 0 1 0 0 0 0 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Orofacial cleft 0 0 0 1 0 0 1
Ovarian neoplasm 1 0 0 0 0 0 1
Prostate cancer susceptibility 0 0 0 0 1 0 1
Spinocerebellar ataxia 45 0 0 0 1 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 1 1
Uterine corpus endometrial carcinoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 125
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 292 48 1806 1228 68 0 3442
Ambry Genetics 215 43 1286 1072 42 0 2658
Myriad Genetics, Inc. 222 78 85 279 674 0 1338
Color Diagnostics, LLC DBA Color Health 42 13 635 503 28 0 1221
GeneDx 41 24 408 265 122 0 860
Quest Diagnostics Nichols Institute San Juan Capistrano 27 14 213 85 54 0 393
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 82 11 223 34 32 0 382
Clingen Gastric Cancer Variant Curation Expert Panel 130 23 40 71 60 0 324
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 21 10 141 104 47 0 323
Department of Pathology and Laboratory Medicine, Sinai Health System 17 6 125 121 12 0 281
Baylor Genetics 25 15 223 0 0 0 263
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 5 13 57 121 31 0 227
Sema4, Sema4 1 5 69 67 40 0 182
PreventionGenetics, part of Exact Sciences 5 2 51 80 24 0 162
Counsyl 4 8 91 41 1 0 145
Illumina Laboratory Services, Illumina 0 0 40 17 38 0 95
Mendelics 4 2 35 23 15 0 79
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 23 43 9 0 75
CeGaT Center for Human Genetics Tuebingen 4 0 9 52 6 0 71
Fulgent Genetics, Fulgent Genetics 6 4 45 10 1 0 66
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 6 0 10 14 28 0 58
Breakthrough Genomics, Breakthrough Genomics 0 0 5 13 39 0 57
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 3 16 10 28 0 54
Mayo Clinic Laboratories, Mayo Clinic 5 2 16 15 14 0 52
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 48 48
Genetic Services Laboratory, University of Chicago 0 0 15 16 8 0 39
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 1 15 17 6 0 39
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 10 15 0 27
OMIM 25 0 0 0 1 0 26
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 12 12 0 24
Clinical Genetics, Academic Medical Center 0 0 0 8 15 0 23
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 15 3 3 0 21
ITMI 0 0 0 0 0 20 20
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 15 3 1 0 20
True Health Diagnostics 0 0 3 13 3 0 19
University of Washington Department of Laboratory Medicine, University of Washington 2 2 4 10 0 0 18
GeneKor MSA 0 0 13 0 4 0 17
Molecular Pathology, Peter Maccallum Cancer Centre 5 0 8 3 0 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 11 2 0 14
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 14 14
Institute of Human Genetics, University of Leipzig Medical Center 3 0 9 2 0 0 14
Revvity Omics, Revvity 3 3 7 0 0 0 13
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 1 0 8 3 0 0 12
MGZ Medical Genetics Center 3 1 8 0 0 0 12
Clinical Genetics Laboratory, Skane University Hospital Lund 7 0 4 0 0 0 11
Eurofins Ntd Llc (ga) 0 0 3 0 7 0 10
Laboratory for Genotyping Development, RIKEN 10 0 0 0 0 0 10
University of Washington Center for Mendelian Genomics, University of Washington 0 6 4 0 0 0 10
Cancer Genomics Group, Japanese Foundation For Cancer Research 0 0 7 1 0 0 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 4 2 0 0 0 8
Pathway Genomics 4 0 2 1 1 0 8
CSER _CC_NCGL, University of Washington 1 1 3 2 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 1 0 7
Dasa 2 0 1 2 2 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 4 0 2 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 3 0 0 0 6
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 3 3 0 0 0 0 6
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 3 0 0 3 0 6
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 3 2 0 1 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 0 0 6 0 0 0 6
BRCAlab, Lund University 4 1 0 0 0 0 5
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 0 5 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 4 0 5
GenomeConnect - No Stomach For Cancer 0 0 0 0 0 5 5
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 5 5
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 1 1 0 0 2 0 4
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 1 1 1 1 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 3 1 0 0 0 4
King Laboratory, University of Washington 2 0 0 0 2 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 3 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 1 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 3 0 0 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 0 3 0 0 0 3
Genesis Genomics 2 1 0 0 0 0 3
Genetics and Personalized Medicine Clinic, Tartu University Hospital 0 3 0 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 1 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 2 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 0 0 0 3
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 1 2 0 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 3 0 0 0 3
Vantari Genetics 0 0 1 0 2 0 3
3DMed Clinical Laboratory Inc 0 1 1 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 2 0 0 0 0 2
Immunopatologia e Biomarcatori Oncologici/Bio-proteomics facility, Centro di Riferimento Oncologico 2 0 0 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 1 0 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 0 1 1 0 0 2
Laboratório de Genética Humana e Médica, Universidade Federal do Pará 1 0 0 0 0 1 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
CHARM Consortium 0 1 0 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 1 0 0 0 1
Catlab - Consorci Sanitari de Terrassa 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Prosthodontics, Peking University School and Hospital of Stomatology 0 1 0 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 1 0 0 1
EVOGEN 0 1 0 0 0 0 1
Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO) 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Fundacion Rioja Salud, Center for Biomedical Research (CIBIR) 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genomic Center, National Cancer Institute 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 1 0 0 0 1
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 0 1
Pediatric Oncology, Johns Hopkins University 0 0 0 1 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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